4 resultados para proposed. budget
em Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco
Resumo:
9 p.
Resumo:
Background: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H+ -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defects may differ from those described in other ethnicities. We aim to identify molecular defects present in the ATP6V1B1, ATP6V0A4 and SLC4A1 genes in a Tunisian cohort, according to the following algorithm: first, ATP6V1B1 gene analysis in dRTA patients with sensorineural hearing loss (SNHL) or unknown hearing status. Afterwards, ATP6V0A4 gene study in dRTA patients with normal hearing, and in those without any structural mutation in the ATP6V1B1 gene despite presenting SNHL. Finally, analysis of the SLC4A1 gene in those patients with a negative result for the previous studies. Methods: 25 children (19 boys) with dRTA from 20 families of Tunisian origin were studied. DNAs were extracted by the standard phenol/chloroform method. Molecular analysis was performed by PCR amplification and direct sequencing. Results: In the index cases, ATP6V1B1 gene screening resulted in a mutation detection rate of 81.25%, which increased up to 95% after ATP6V0A4 gene analysis. Three ATP6V1B1 mutations were observed: one frameshift mutation (c.1155dupC; p.Ile386fs), in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site (c.175-1G > C; p.?) in intron 2, and one novel missense mutation (c. 1102G > A; p. Glu368Lys), in exon 11. We also report four mutations in the ATP6V0A4 gene: one single nucleotide deletion in exon 13 (c.1221delG; p. Met408Cysfs* 10); the nonsense c.16C > T; p.Arg6*, in exon 3; and the missense changes c.1739 T > C; p.Met580Thr, in exon 17 and c.2035G > T; p.Asp679Tyr, in exon 19. Conclusion: Molecular diagnosis of ATP6V1B1 and ATP6V0A4 genes was performed in a large Tunisian cohort with dRTA. We identified three different ATP6V1B1 and four different ATP6V0A4 mutations in 25 Tunisian children. One of them, c.1102G > A; p.Glu368Lys in the ATP6V1B1 gene, had not previously been described. Among deaf since childhood patients, 75% had the ATP6V1B1 gene c. 1155dupC mutation in homozygosis. Based on the results, we propose a new diagnostic strategy to facilitate the genetic testing in North Africans with dRTA and SNHL.
Resumo:
24 p.
Resumo:
[EU]Lan honetan hutsetik hasita skate motorizatu baten diseinu bat egin da, Industria Teknologian Ingeniaritzako Graduan eskuratutako jakintzak erabiliz. Skatea gazteengan oso erabilia den garraiobide bat da aisia dela-eta, eta sinpletasuna eta ekonomia kontuan hartuta, aisia eta ingurugiroarekiko konpromisoa nahasten dira diseinu honekin. Lanak bide argi bat dauka: hasieran merkatuaren egoera aztertzen da, gero diseinu posible batzuk proposatu ahal izateko, eta hortik aukera bat jorratu ahal izateko. Hortaz, prozesua hasieratik hasita, egitura hau izango du lanak: Hasteko, skate motorizatuen merkatuko egoera zein den aztertzen da, ondoren eta helburuak zeintzuk diren kontutan izanda, diseinu posible batzuk proposatu ahal izateko, alternatiben analisien atalean ageri direnak. Proposamen horiek aztertu egiten dira, alde on eta txarrak desberdinduz eta horietako soluzio bat aukeratuz. Aukeratutako diseinuaren CAD modelo bat eraikitzen da, ondoren egoera fisikoa matematikoki modelizatzeko eta beharrezko kalkuluak egin ahal izateko, metodologia atalean eta eranskinetan ageri direnak, hala nola, azelerazio jakin bat lortzeko behar den potentzia, transmisioan beharrezkoak diren kalkuluak kokatu beharreko elementuak zeintzuk diren erabaki ahal izateko, etab. Bide honetan, jorraturiko diseinuaz gain beste diseinu optimizatu eta konplexuago bat proposatzen da, ikerketa bidea zabalik duena, enpresa mundura gehiago zuzendua. Azkenik, lana burutzeko bete behar izan diren ataza bakoitzaren deskribapena eta iraupena, aurrekontua eta gastu aitorpena, arriskuen analisia eta proiektu honetatik atera ditugun ondorioak ematen dira.